9q31.1q31.3 microdeletion syndrome
Synonyms: Del(9)(q31.1q31.3) · Monosomy 9q31.1q31.3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 9q31.1q31.3 microdeletion syndrome | Del(9)(q31.1q31.3) · Monosomy 9q31.1q31.3 |
| fr | Syndrome de microdélétion 9 q31.1q31.3 | Del(9)(q31.1q31.3) · Monosomie 9q31.1q31.3 |
| de | Mikrodeletionssyndrom 9q31.1q31.3 | Del(9)(q31.1q31.3) · Monosomie 9q31.1q31.3 |
| es | Síndrome de microdeleción 9q31.1q31.3 | Del(9)(q31.1q31.3) · Monosomía 9q31.1q31.3 |
| it | Sindrome da microdelezione 9q31.1q31.3 | Del(9)(q31.1q31.3) · Monosomia 9q31.1q31.3 |
| nl | 9q31.1q31.3-microdeletiesyndroom | Del(9)(q31.1q31.3) · Monosomie 9q31.1q31.3 |
| pt | Síndrome de microdeleção 9q31.1q31.3 | |
| pl | Zespół mikrodelecji 9q31.1q31.3 | Del(9)(q31.1q31.3) · Monosomia 9q31.1q31.3 |
| cs | Mikrodeleční syndrom 9q31.1q31.3 | Del(9)(q31.1q31.3) · Monozomie 9q31.1q31.3 |
| uk | Синдром мікроделеції 9q31.1q31.3 | Del(9)(q31.1q31.3) · Моносомія 9q31.1q31.3 |
| zh | 9q31.1q31.3微缺失综合症 | 9q31.1q31.3单体 |
| tr | 9q31.1q31.3 mikrodelesyon sendromu | Del(9)(q31.1q31.3) · Monozomi 9q31.1q31.3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0018428 | E | validated | |
| UMLS | C4750910 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:262074Partial deletion of the long arm of chromosome 9 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24376033[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24376033[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
22 annotations · validated 2019-12-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001659 | Aortic regurgitation | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0011822 | Broad chin | |
| HP:0000455 | Broad nasal tip | |
| HP:0002947 | Cervical kyphosis | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0012368 | Flat face | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000303 | Mandibular prognathia | |
| HP:0011342 | Mild global developmental delay | |
| HP:0025502 | Overweight | |
| HP:0100817 | Renovascular hypertension | |
| HP:0000894 | Short clavicles | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| HP:0001182 | Tapered finger | |
| HP:0100874 | Thick hair | |
| HP:0005978 | Type II diabetes mellitus | |
Annotation source: 24376033[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401923
- This record as JSON: /data/d/401923.json